Cystic fibrosis (CF) remains a prevalent genetically inherited disease in Caucasianpopulations. Investigation of the respiratory symptoms which occur in patients with CF helps usunderstand the pathophysiology of chronic lung disease. Environmental insults, such as cigarettesmoke, can reduce the cystic fibrosis transmembrane receptor (CFTR) function or expressionleading to an acquired CF phenotype and could contribute to the development and progressionof smoking-related lung disease. However, it is uncertain if the acquired CF phenotype can bediagnosed with the same methods, such as the sweat chloride test and the measurementof nasal potential difference, used for genetically-acquired CF. More studies are needed toinvestigate the prevalence of acquired CFTR dysfunction and the differences between acquiredand genetically-inherited CFTR dysfunction. Overall, acquired CFTR dysfunction challengesthe distinction between genetic and acquired disorders, suggesting that environmental agentsmay modulate the functions of genes and the increase risk for pulmonary disease.
The CFTR and ENaC debate: how important is ENaC in CF lung disease?
